State Key Laboratory of Oral & Maxillofacial Reconstruction and Regeneration, National Clinical Research Center for Oral Diseases, Shaanxi Key Laboratory of Stomatology, Department of Oral Biology, Clinic of Oral Rare and Genetic Diseases, School of Stomatology, The Fourth Military Medical University, Xi'an, People's Republic of China.
Clin Genet. 2023 Sep;104(3):287-297. doi: 10.1111/cge.14400. Epub 2023 Jul 13.
Tooth eruption is an important and unique biological process during craniofacial development. Both the genetic and environmental factors can interfere with this process. Here we aimed to find the failure pattern of tooth eruption among five genetic diseases. Both systematic review and meta-analysis were used to identify the genotype-phenotype associations of unerupted teeth. The meta-analysis was based on the characteristics of abnormal tooth eruption in 223 patients with the mutations in PTH1R, RUNX2, COL1A1/2, CLCN7, and FAM20A respectively. We found all the patients presented selective failure of tooth eruption (SFTE). Primary failure of eruption patients with PTH1R mutations showed primary or isolated SFTE1 in the first and second molars (59.3% and 52% respectively). RUNX2 related cleidocranial dysplasia usually had SFTE2 in canines and premolars, while COL1A1/2 related osteogenesis imperfecta mostly caused SFTE3 in the maxillary second molars (22.9%). In CLCN7 related osteopetrosis, the second molars and mandibular first molars were the most affected. While FAM20A related enamel renal syndrome most caused SFTE5 in the second molars (86.2%) and maxillary canines. In conclusion, the SFTE was the common characteristics of most genetic diseases with abnormal isolated or syndromic tooth eruption. The selective pattern of unerupted teeth was gene-dependent. Here we recommend SFTE to classify those genetic unerupted teeth and guide for precise molecular diagnosis and treatment.
牙齿萌出是颅面发育过程中的一个重要且独特的生物学过程。遗传和环境因素都可能干扰这个过程。在这里，我们旨在研究五种遗传性疾病中牙齿萌出失败的模式。我们采用系统评价和荟萃分析来确定牙齿未萌出与基因突变之间的表型-基因型关联。荟萃分析基于 223 名患有 PTH1R、RUNX2、COL1A1/2、CLCN7 和 FAM20A 基因突变的患者的异常牙齿萌出特征。我们发现所有患者均表现出选择性牙齿萌出失败（SFTE）。PTH1R 基因突变的原发性萌出失败患者中，第一和第二磨牙出现原发性或孤立性 SFTE1（分别为 59.3%和 52%）。RUNX2 相关的颅锁骨发育不全通常在犬齿和前磨牙中出现 SFTE2，而 COL1A1/2 相关的成骨不全症主要在上颌第二磨牙中引起 SFTE3（22.9%）。在 CLCN7 相关的骨质增生症中，第二磨牙和下颌第一磨牙受影响最大。而 FAM20A 相关的牙釉质肾综合征则最常导致第二磨牙（86.2%）和上颌犬齿的 SFTE5。总之，SFTE 是大多数具有异常孤立或综合征性牙齿萌出的遗传性疾病的共同特征。未萌出牙齿的选择性模式是基因依赖性的。在这里，我们建议使用 SFTE 来对这些遗传性未萌出牙齿进行分类，并指导精确的分子诊断和治疗。
